Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.Y48C
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CRTAP

NM_006371.5:p.Y48C

Associated Papers

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

Abegglen O et al.

American Journal of Medical Genetics. Part A, 2025

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Charpié M et al.

European Journal of Human Genetics : Ejhg, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."